title: Adult-onset nemaline myopathy presenting as respiratory failure.
abstract: Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a case of a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the initial manifestation of nemaline myopathy. After starting noninvasive ventilation, his pulmonary function test results improved substantially, and over the 4 years since diagnosis his respiratory function remained stable. There are few reported cases of respiratory failure in patients with adult-onset nemaline myopathy, and the insidious onset in this case is even more unusual. This case highlights the varied presenting features of adult-onset nemaline myopathy and that noninvasive ventilation improves respiratory function.
authors.affiliation: Department of Respiratory Research, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland. emerkelly@rcsi.ie
authors.forename: Emer
authors.initials: E
authors.lastname: Kelly
authors.forename: Michael A
authors.initials: MA
authors.lastname: Farrell
authors.forename: Noel G
authors.initials: NG
authors.lastname: McElvaney
mesh_terms: D000328:Adult; D001706:Biopsy; D003937:Diagnosis, Differential; D004576:Electromyography; D005500:Follow-Up Studies; D005540:Forced Expiratory Flow Rates / Q000502:physiology; D006801:Humans; D008297:Male; D017696:Myopathies, Nemaline / Q000150:complications* / Q000175:diagnosis; D012121:Respiration, Artificial / Q000379:methods*; D012131:Respiratory Insufficiency / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy